HDAC inhibition ameliorates cone survival in retinitis pigmentosa mice

Cell Death Differ. 2021 Apr;28(4):1317-1332. doi: 10.1038/s41418-020-00653-3. Epub 2020 Nov 6.

Abstract

Cone photoreceptor cell death in inherited retinal diseases, such as Retinitis Pigmentosa (RP), leads to the loss of high acuity and color vision and, ultimately to blindness. In RP, a vast number of mutations perturb the structure and function of rod photoreceptors, while cones remain initially unaffected. Extensive rod loss in advanced stages of the disease triggers cone death by a mechanism that is still largely unknown. Here, we show that secondary cone cell death in animal models for RP is associated with increased activity of histone deacetylates (HDACs). A single intravitreal injection of an HDAC inhibitor at late stages of the disease, when the majority of rods have already degenerated, was sufficient to delay cone death and support long-term cone survival in two mouse models for RP, affected by mutations in the phosphodiesterase 6b gene. Moreover, the surviving cones remained light-sensitive, leading to an improvement in visual function. RNA-seq analysis of protected cones demonstrated that HDAC inhibition initiated multi-level protection via regulation of different pro-survival pathways, including MAPK, PI3K-Akt, and autophagy. This study suggests a unique opportunity for targeted pharmacological protection of secondary dying cones by HDAC inhibition and creates hope to maintain vision in RP patients even in advanced disease stages.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Disease Models, Animal
  • Gene Expression Regulation / drug effects
  • Histone Deacetylase Inhibitors / pharmacology*
  • Intravitreal Injections
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Neuroprotective Agents / pharmacology*
  • Retinal Cone Photoreceptor Cells / drug effects*
  • Retinitis Pigmentosa / drug therapy*
  • Retinitis Pigmentosa / pathology

Substances

  • Histone Deacetylase Inhibitors
  • Neuroprotective Agents